Methods
FSMs were grouped by anatomic system and specific malformation type
(e.g., central nervous system, thoracic, cardiac, gastrointestinal,
skeletal, umbilical cord and craniofacial defects). Single-nucleotide
polymorphism array detected CNVs of at least 500kb. CNVs were classified
into two groups: normal, defined as no CNVs>500kb or benign
CNVs, and abnormal, defined as pathogenic or variants of unknown
clinical significance.